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Laura K Conlin
Laura K Conlin
Assistant Professor, Department of Pathology and Laboratory Medicine, University of Pennsylvania
Verified email at email.chop.edu
Title
Cited by
Cited by
Year
Natural variation in human gene expression assessed in lymphoblastoid cells
VG Cheung, LK Conlin, TM Weber, M Arcaro, KY Jen, M Morley, ...
Nature genetics 33 (3), 422-425, 2003
7412003
Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research Consortium
LM Amendola, GP Jarvik, MC Leo, HM McLaughlin, Y Akkari, MD Amaral, ...
The American Journal of Human Genetics 98 (6), 1067-1076, 2016
4872016
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis
LK Conlin, BD Thiel, CG Bonnemann, L Medne, LM Ernst, EH Zackai, ...
Human molecular genetics 19 (7), 1263-1275, 2010
4472010
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications
TH Shaikh, X Gai, JC Perin, JT Glessner, H Xie, K Murphy, R O'Hara, ...
Genome research 19 (9), 1682-1690, 2009
4072009
Return of genomic results to research participants: the floor, the ceiling, and the choices in between
GP Jarvik, LM Amendola, JS Berg, K Brothers, EW Clayton, W Chung, ...
The American Journal of Human Genetics 94 (6), 818-826, 2014
3642014
Actionable exomic incidental findings in 6503 participants: challenges of variant classification
LM Amendola, MO Dorschner, PD Robertson, JS Salama, R Hart, ...
Genome research 25 (3), 305-315, 2015
3212015
Clinical sequencing exploratory research consortium: accelerating evidence-based practice of genomic medicine
RC Green, KAB Goddard, GP Jarvik, LM Amendola, PS Appelbaum, ...
The American Journal of Human Genetics 98 (6), 1051-1066, 2016
1562016
Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: consanguinity, uniparental disomy, and recessive single-gene mutations
HM Kearney, JB Kearney, LK Conlin
Clinics in laboratory medicine 31 (4), 595-613, 2011
1332011
Mechanisms of ring chromosome formation, ring instability and clinical consequences
RS Guilherme, VF Ayres Meloni, CA Kim, R Pellegrino, SS Takeno, ...
BMC medical genetics 12 (1), 1-7, 2011
1202011
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study
MR Hart, BB Biesecker, CL Blout, KD Christensen, LM Amendola, ...
Genetics in Medicine 21 (5), 1100-1110, 2019
932019
Genome‐wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment
LJ Francey, LK Conlin, HE Kadesch, D Clark, D Berrodin, Y Sun, ...
American journal of medical genetics Part A 158 (2), 298-308, 2012
902012
The natural osmolyte trehalose is a positive regulator of the heat-induced activity of yeast heat shock transcription factor
LK Conlin, HCM Nelson
Molecular and cellular biology 27 (4), 1505-1515, 2007
892007
Interstitial microduplication of Xp22. 31: Causative of intellectual disability or benign copy number variant?
F Li, Y Shen, U Köhler, FH Sharkey, D Menon, L Coulleaux, V Malan, ...
European journal of medical genetics 53 (2), 93-99, 2010
802010
Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum
Q Li, JL Brodsky, LK Conlin, B Pawel, AC Glatz, RI Gafni, L Schurgers, ...
Journal of Investigative Dermatology 134 (3), 658-665, 2014
702014
Clinical features of three girls with mosaic genome‐wide paternal uniparental isodisomy
JM Kalish, LK Conlin, TR Bhatti, HA Dubbs, MC Harris, K Izumi, ...
American journal of medical genetics Part A 161 (8), 1929-1939, 2013
652013
Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients
LK Conlin, W Kramer, AL Hutchinson, X Li, H Riethman, H Hakonarson, ...
Journal of medical genetics 48 (1), 1-9, 2011
632011
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure
S Mulchandani, EJ Bhoj, M Luo, N Powell-Hamilton, K Jenny, KW Gripp, ...
Genetics in Medicine 18 (4), 309-315, 2016
612016
Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith–Wiedemann syndrome
JM Kalish, KE Boodhansingh, TR Bhatti, A Ganguly, LK Conlin, SA Becker, ...
Journal of medical genetics 53 (1), 53-61, 2016
612016
SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation
BM Kamath, BD Thiel, X Gai, LK Conlin, PS Munoz, J Glessner, D Clark, ...
Human mutation 30 (3), 371-378, 2009
612009
Mosaicism and clinical genetics
NB Spinner, LK Conlin
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2014
602014
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